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NM_015355.4(SUZ12):c.1234A>G (p.Thr412Ala) AND Global developmental delay

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Nov 12, 2019
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV001255028.1

Allele description [Variation Report for NM_015355.4(SUZ12):c.1234A>G (p.Thr412Ala)]

NM_015355.4(SUZ12):c.1234A>G (p.Thr412Ala)

Gene:
SUZ12:SUZ12 polycomb repressive complex 2 subunit [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17q11.2
Genomic location:
Preferred name:
NM_015355.4(SUZ12):c.1234A>G (p.Thr412Ala)
HGVS:
  • NC_000017.11:g.31993274A>G
  • NG_009237.1:g.61250A>G
  • NM_001321207.2:c.1165A>G
  • NM_015355.4:c.1234A>GMANE SELECT
  • NP_001308136.1:p.Thr389Ala
  • NP_056170.2:p.Thr412Ala
  • NC_000017.10:g.30320293A>G
  • NM_015355.2:c.1234A>G
Protein change:
T389A
Links:
dbSNP: rs1909814462
NCBI 1000 Genomes Browser:
rs1909814462
Molecular consequence:
  • NM_001321207.2:c.1165A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_015355.4:c.1234A>G - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Global developmental delay (DD)
Identifiers:
MedGen: C0557874; Human Phenotype Ontology: HP:0001263

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001431119New York Genome Center
no assertion criteria provided
Uncertain significance
(Nov 12, 2019) 		germlineclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot provided1not providedclinical testing

Details of each submission

From New York Genome Center, SCV001431119.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyes1not providednot provided1not providednot providednot provided

Last Updated: Oct 8, 2024